A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT

Blood

Volumn 122, Issue 7, 2013, Pages 1312-1315

  Krawitz, Peter M ^a   Höchsmann, Britta ^b   Murakami, Yoshiko ^c   Teubner, Britta ^a   Krüger, Ulrike ^a   Klopocki, Eva ^d   Neitzel, Heidemarie ^a   Hoellein, Alexander ^e   Schneider, Christina ^b   Parkhomchuk, Dmitri ^a   Hecht, Jochen ^f   Robinson, Peter N ^a   Mundlos, Stefan ^a   Kinoshita, Taroh ^c   Schrezenmeier, Hubert ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF ULM   (Germany)

^c OSAKA UNIVERSITY   (Japan)

^d UNIVERSITY OF WÜRZBURG   (Germany)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^f Berlin Brandenburg Center for Regenerative Therapies   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ECULIZUMAB; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; ACYLTRANSFERASE; COOH TERMINAL SIGNAL TRANSAMIDASE; COOH-TERMINAL SIGNAL TRANSAMIDASE;

ABDOMINAL PAIN; ADULT; ALLELE; ARTHRALGIA; ARTICLE; B LYMPHOCYTE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DIARRHEA; DYSPNEA; EXON; FATIGUE; FLOW CYTOMETRY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GERMLINE MUTATION; GRANULOCYTE; HEADACHE; HEMATOPOIETIC STEM CELL; HEMOGLOBINURIA; HEMOLYTIC ANEMIA; HUMAN; HUMAN CELL; MIDDLE AGED; NEUTROPHIL; NEXT GENERATION SEQUENCING; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PIGT GENE; PRIORITY JOURNAL; SANGER SEQUENCING; SOMATIC MUTATION; T LYMPHOCYTE; WESTERN BLOTTING; WHOLE GENOME SEQUENCING; WILD TYPE; X CHROMOSOME; ALTERNATIVE RNA SPLICING; ANIMAL; CASE CONTROL STUDY; CASE REPORT; CHO CELL; COMPARATIVE STUDY; CRICETULUS; DNA SEQUENCE; FEMALE; GENE DELETION; GENETICS; MUTATION; X CHROMOSOMAL INHERITANCE;

ACYLTRANSFERASES; ADULT; ALTERNATIVE SPLICING; ANIMALS; CASE-CONTROL STUDIES; CHO CELLS; COMPARATIVE GENOMIC HYBRIDIZATION; CRICETULUS; EXONS; FEMALE; FLOW CYTOMETRY; GENES, X-LINKED; GERM-LINE MUTATION; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MUTATION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84887172353     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-01-481499     Document Type: Article

References (27)

1. Brodsky RA. Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria. Blood Rev. 2008;22(2):65-74.
2. Bessler M, Mason P, Hillmen P, Luzzatto L. Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria. Lancet. 1994;343(8903):951-953.
3. Hillmen P, Lewis SM, Bessler M, Luzzatto L, Dacie JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995;333(19): 1253-1258.
4. Rosse WF. Epidemiology of PNH. Lancet. 1996; 348(9027):560.
5. Socié G, Mary JY, de Gramont A, et al; French Society of Haematology. Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. Lancet. 1996;348(9027): 573-577.
6. Takahashi M, Takeda J, Hirose S, et al. Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria. J Exp Med. 1993;177(2):517-521.
7. Takeda J, Miyata T, Kawagoe K, et al. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell. 1993;73(4):703-711.
8. Miyata T, Takeda J, Iida Y, et al. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science. 1993; 259(5099):1318-1320.
9. Nafa K, Bessler M, Castro-Malaspina H, Jhanwar S, Luzzatto L. The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications. Blood Cells Mol Dis. 1998;24(3): 370-384.
10. Krawitz PM, Murakami Y, Rieß A, et al. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet. 2013; 92(4):584-589.
11. Li H. A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics. 2011;27(21): 2987-2993.
12. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.
13. Kamphans T, Krawitz PM. GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes. Bioinformatics. 2012;28(19):2515-2516.
14. Klopocki E, Lohan S, Brancati F, et al. Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet. 2011;88(1): 70-75.
15. Ohishi K, Inoue N, Kinoshita T. PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8. EMBO J. 2001;20(15):4088-4098.
16. Takebe Y, Seiki M, Fujisawa J, et al. SR alpha promoter: an efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the R-U5 segment of human T-cell leukemia virus type 1 long terminal repeat. Mol Cell Biol. 1988;8(1):466-472.
17. Hong Y, Ohishi K, Inoue N, et al. Requirement of N-glycan on GPI-anchored proteins for efficient binding of aerolysin but not Clostridium septicum alpha-toxin. EMBO J. 2002;21(19):5047-5056.
18. Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA. 1971;68(4):820-823.
19. Maydan G, Noyman I, Har-Zahav A, et al. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet. 2011;48(6):383-389.
20. Almeida AM, Murakami Y, Layton DM, et al. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med. 2006;12(7):846-851.
21. Krawitz PM, Murakami Y, Hecht J, et al. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet. 2012;91(1): 146-151.
22. Ng BG, Hackmann K, Jones MA, et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet. 2012; 90(4):685-688.
23. Krawitz PM, Schweiger MR, Rödelsperger C, et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet. 2010;42(10):827-829.
24. Johnston JJ, Gropman AL, Sapp JC, et al. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet. 2012;90(2): 295-300.
25. Kvarnung M, Nilsson D, Lindstrand A, et al. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT [published online ahead of print May 1, 2013]. J Med Genet.
26. Yamashina M, Ueda E, Kinoshita T, et al. Inherited complete deficiency of 20-kilodalton homologous restriction factor (CD59) as a cause of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1990;323(17):1184-1189.
27. Höchsmann B, Dohna-Schwake C, Rojewski M, et al. Targeted Therapy with Eculizumab for inherited CD59 Deficiency, submitted